ABSTRACT
A multidisciplinary approach is mandatory in defining the cause and directing the treatment of childhood urinary incontinence. Both pediatricians and pediatric urologists should carefully evaluate a child with incontinence for possible overlapping etiologies, before labeling him or her as a refractory case. We report an epileptic boy with dysfunctional elimination syndrome (DES) with associated rare complications of giggle incontinence and idiopathic urethritis, proving the need for a good voiding diary, patient history and structured symptom scores.
Subject(s)
Epilepsy, Partial, Motor/complications , Laughter , Urethritis/complications , Urinary Incontinence/etiology , Child , Electroencephalography , Humans , Male , Urinary Incontinence/psychologyABSTRACT
Genoa syndrome was first described by Camera et al in 1993 in two patients with semilobar holoprosencephaly (HPE), craniosynostosis and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers (OMIM: 601370). In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa syndrome or to a newly recognized syndrome. Endocrinopathies in association with HPE are frequently reported in the literature. Diabetes insipidus, hypothyroidism, hypocortisolism, and growth hormone deficiency are frequently associated with HPE. We here report a case of semilobar HPE, craniosynostosis and cleft lip/palate, possibly a case of Genoa syndrome, associated with central diabetes insipidus.
Subject(s)
Abnormalities, Multiple/pathology , Craniosynostoses/pathology , Diabetes Insipidus, Neurogenic/pathology , Holoprosencephaly/pathology , Cleft Lip/pathology , Cleft Palate/pathology , Humans , Infant , Male , Nose/abnormalities , SyndromeABSTRACT
We present cranial magnetic resonance imaging (MRI) findings in a 6-year-old boy with Opitz syndrome. The electroencephalogram revealed epileptiform abnormalities in both frontal regions. MRI showed normal callosal development, but a rounded shape of the left hippocampus due to malrotation. The temporal horn was slightly dilated on the left side. These features were consistent with isolated hippocampal malrotation.
